Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2472 | 7639;7640;7641 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
| N2AB | 2472 | 7639;7640;7641 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
| N2A | 2472 | 7639;7640;7641 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
| N2B | 2426 | 7501;7502;7503 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
| Novex-1 | 2426 | 7501;7502;7503 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
| Novex-2 | 2426 | 7501;7502;7503 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
| Novex-3 | 2472 | 7639;7640;7641 | chr2:178773642;178773641;178773640 | chr2:179638369;179638368;179638367 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1486709515  |
0.552 | 1.0 | N | 0.679 | 0.454 | 0.419957187557 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1486709515 |
0.552 | 1.0 | N | 0.679 | 0.454 | 0.419957187557 | gnomAD-4.0.0 | 3.18146E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.7669E-05 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4205 | ambiguous | 0.4123 | ambiguous | -0.061 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.506932694 | None | None | I |
| D/C | 0.9045 | likely_pathogenic | 0.8857 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| D/E | 0.299 | likely_benign | 0.283 | benign | -0.29 | Destabilizing | 1.0 | D | 0.556 | neutral | N | 0.507302617 | None | None | I |
| D/F | 0.8538 | likely_pathogenic | 0.8361 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| D/G | 0.3317 | likely_benign | 0.3182 | benign | -0.232 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.505290037 | None | None | I |
| D/H | 0.6377 | likely_pathogenic | 0.6015 | pathogenic | 0.277 | Stabilizing | 1.0 | D | 0.609 | neutral | D | 0.576809989 | None | None | I |
| D/I | 0.8056 | likely_pathogenic | 0.7968 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | I |
| D/K | 0.8155 | likely_pathogenic | 0.797 | pathogenic | 0.501 | Stabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| D/L | 0.7323 | likely_pathogenic | 0.7179 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | I |
| D/M | 0.8644 | likely_pathogenic | 0.8451 | pathogenic | 0.276 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| D/N | 0.1755 | likely_benign | 0.162 | benign | 0.164 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.509202316 | None | None | I |
| D/P | 0.9434 | likely_pathogenic | 0.9463 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | I |
| D/Q | 0.7122 | likely_pathogenic | 0.684 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | I |
| D/R | 0.835 | likely_pathogenic | 0.8186 | pathogenic | 0.669 | Stabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | I |
| D/S | 0.2884 | likely_benign | 0.2729 | benign | 0.094 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| D/T | 0.5772 | likely_pathogenic | 0.5631 | ambiguous | 0.231 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| D/V | 0.6112 | likely_pathogenic | 0.606 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.609 | neutral | D | 0.535437721 | None | None | I |
| D/W | 0.9755 | likely_pathogenic | 0.9711 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| D/Y | 0.5108 | ambiguous | 0.4821 | ambiguous | 0.205 | Stabilizing | 1.0 | D | 0.611 | neutral | D | 0.642694845 | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.